Dihydropyrimidinase Deficiency

Alternative Names

  • DPYSD
  • Dihydropyrimidinuria
  • DPYS Deficiency
  • DPH Deficiency

Associated Genes

Dihydropyriminidase
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

222748

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q22.3

Description

Dihydropyrimidinase Deficiency is a rare disorder characterized by dihydropryrimiduniria and associated with a variable phenotype. Typical lab findings include increased uracil and dihydrouracil and thymine and dihydrothymine levels. Patients may also show neurological and/or gastrointestinal symtoms. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
222748.1.1LebanonFemaleYes Abnormal circulating nucleobase concentr...NM_001385.2:c.1078T>CHomozygousAutosomal, RecessiveHamajima et al., 1998; van Gennip et al., 1997
222748.1.2LebanonFemaleNM_001385.2:c.1078T>CHeterozygousHamajima et al., 1998 Mother of 222748.1.1
222748.1.3LebanonMaleNM_001385.2:c.1078T>CHeterozygousHamajima et al., 1998 Father of 222748.1.1
222748.1.4LebanonMaleNM_001385.2:c.1078T>CHeterozygousHamajima et al., 1998 Maternal grandfather...
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